Case Report ISSN 2641-4333

Neurology - Research & Surgery

Fahr’s Syndrome; True Clinical Orphan: Experience of A Young Togolese

and Review of The Literature
Agba Léhleng1, Kumako V. Kodzo1, Dagbe Massagba2, Kombate Damelan3, Anayo K. Nyinèvi4,
Guinhouya K. Mensah4, Assogba Komi5, Belo Mofou4 and Balogou Koffi Agnon5

Neurology Department, University Hospital Center of Kara,

1

Kara University, Kara, Togo.

Radiology Department, University Hospital Center of Kara,

2

Kara University, Kara, Togo. Correspondence:

*

Dr. Agba Léhleng, Neurology Department, University Hospital

3
Neurology Department, Regional Hospital Center of Kara Center of Kara, Kara University, PoBox 18 Kara – Togo.
Tomdè, Kara University, Kara, Togo.
Received: 01 November 2019; Accepted: 29 November 2019
Neurology Department, University Hospital Center of Sylvanus
4

Olympio, Lomé University, Lomé, Togo.

5
Neurology Department, University Hospital Center of Campus,
Lomé University, Lomé, Togo.

Citation: Agba Léhleng, Kumako V. Kodzo, Dagbe Massagba, et al. Fahr’s Syndrome; True Clinical Orphan: Experience of A Young
Togolese and Review of The Literature. Neurol Res Surg. 2019; 2(2): 1-3.

ABSTRACT
Background: There is no clinical sign to suspect Fahr's syndrome when examining the patient.

Objective: To report the experience of a Togolese 32-year-old reseller and do a review of the literature.

Case Presentation: A 32-year-old Togolese woman, reseller, has long wandered from consultation to consultation
for headaches and psychiatric symptoms such as insomnia and nightmares. When she was received in neurological
consultation, the imaging revealed symmetrical calcifications of the basal ganglia and the biology confirmed an
endocrinopathy which is hypoparathyroidism.

Conclusion: This case study underlines that only imaging allows to suspect Fahr’s syndrome. However, imaging
does not allow to make a difference with Fahr's disease. The peculiarity of Fahr’s syndrome is its frequent
association with an underlying pathology that is most often hypoparathyroidism.

Keywords syndrome is its frequent association with hypoparathyroidism [4].

Fahr’s syndrome, Clinical orphan, Togolese, Sub Saharan Africa. However, to date, there is no specific clinical sign to suggest this
condition during the examination of the patient which makes this
Introduction disease a truly syndromic orphan. We report the experience of a
Fahr’s disease and Fahr’s syndrome are two conditions Togolese 32-year-old reseller and do a review of the literature.
characterized by calcification in certain areas of the brain that
result in neurological and/or psychiatric sequelae in patients [1]. Case Report
For years, the terms Fahr’s disease and Fahr’s syndrome have been A 32-year-old Togolese woman, reseller, has been admitted to a
indistinctly used [2]. Fahr’s disease was described by Karl Theodor general practice for chronic headaches evolving since six weeks.
Fahr in 1930 as a rare familial (autosomal dominant) disorder These headaches were diffuse, without photo or phonophobia.
that presented with idiopathic basal ganglia calcification, as seen They evolved in an apyretic context and without associated
in the neuroimaging study [3]. One of the peculiarities of Fahr's vomiting. There was no aura. They were badly calmed by the
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usual analgesics. There is no comorbidity in her medical history. Figure: Brain CT scan showed bilateral and symetrical calcifications of
However, there was a notion of her mother's death two weeks lentiform nuclei and head of caudate nuclei.
before the onset of symptoms. Her examination was normal. She
received analgesic treatment after a check-up made of complete Therapeutically, she received per os, 1000 mg calcium carbonate
blood cell count, uremia, serum creatinine and hepatic enzyme (CaCO3) 2 times a day and Cholecalcifrol 100,000 IU twice a week
assay, all of which were normal. The persistence of headaches for two weeks and then once a week. After one month, the control
associated with a notion of insomnia and nightmares with sensation of serum calcium was normal and all symptoms regressed. We then
of diffuse cramps motivates the demand for a psychiatric opinion. retained the Fahr’s syndrome secondary to hypoparathyroidism.
The psychiatric consultation done, she was put on Amytriptiline
25 mg daily associated with 1 mg of Lorazepam each night. The Discussion
symptoms remained stationary with paroxysms of coldness and Fahr’s syndrome is rare and his prevalence is uncertain; however,
cramp treated each time as malaria. Following a major episode of intracranial calcifications suggestive of Fahr’s syndrome are de-
generalized tetany, a neurological consultation is then requested. tected incidentally in approximately 0.3% to 1.2% of CT imaging
On physical examination, the patient was afebrile, with normal of the brain [5]. It is an anatomo-clinical entity, characterized by
blood pressure at 135/66 mm Hg. The oxygen saturation was bilateral and symmetric intracerebral calcifications, localized in
98% on room air. She had a body mass index (BMI) of 27.3 basal ganglia and associated with phosphocalcic metabolic disor-
kg/m2. Neurological examination revealed clear consciousness ders [6]. There is no specific clinical sign for this condition whose
and no cognitive impairment. No focal motor or sensory deficit diagnosis is based primarily on brain imaging including CT. Based
was detected. There was no cerebellar sign. The cranial nerves on the literature review, the most reported clinical signs are of a
examination was normal. The cardiac and lung examination results psychiatric type such as anorexia nervosa, mania, dementia, psy-
were unremarkable. No goitre was palpated. chosis, and depression [7,8]. Other atypical signs have been re-
ported. Thus, in 2019, Ooi et al. reported a peripheral vestibular
Previous laboratory examinations were completed and reveled a syndrome revealing Fahr's syndrome in a Chinese [9]; intracere-
hypocalcemia at 1.59 mmol/l (normal: 2.14 to 2.57 mmol/l), and bral hemorrhage was the mode of revelation in two patients report-
normal phosphoremia level of 1.80 mmol/l (normal: 0.80 to 3.38 ed by Abhijit et al. in 2011 [10]. The lack of specificity of clinical
mmol/l). Magnesium was also normal. The serum electrolytes levels signs makes Fahr's syndrome a real syndromic orphan. This was
were normal. The Thyroid panel including a thyroid-stimulating at the origin of the wandering of our patient with a delay of the
hormone (TSH), free thyroxines (FT3, FT4); was normal. A serum positive diagnosis. Although the diagnosis of Fahr's syndrome is
based on imaging, it is often confused with Fahr's disease, which
parathyroid hormone (PTH) level was not evaluated because of
remains the main differential diagnosis. Malathi in 2016, focused
the unavailability of this test in our laboratories. The HIV test and
on the differentiating elements between these two main disorders
the search of hepatitis B and C were negative in the serum. The
[1]. According to the latter, a diagnosis of either Fahr’s disease or
electrocardiogram (ECG) showed sinus rhythm.
Fahr’s syndrome should be considered if some or all of the follow-
CT scan of brain was done and demonstrated symmetrical ing symptoms are present: a) Basal ganglia movement disorder,
spontaneous hyperdensity of the lentiform nuclei and the head of b) Pyramidal signs, c) Cognitive impairment, e) Gait disorder, f)
the caudate nuclei (Figure). An electroencephalogram (EEG) was Cerebellar abnormalities, g) Speech dysfunction, h) Psychiatric
also performed and was normal. presentations, i) Sensory changes. But, to remember Fahr’s syn-
drome, the following conditions must be met [1]:
• age of onset 30-40 years; evidence of symmetrical, bilateral
intracranial calcification and
• presence of any of the followings endocrinopathies (idio-
pathic hypoparathyroidism, secondary hypoparathyroidism,
pseudohypoparathyroidism, hyperparathyroidism)
• or presence of any the following (brucellosis infection, intra-
uterine or perinatal, neuroferritinopathy, polycystic lipomem-
branous osteodysplasia with sclerosing leucoencephaloathy,
Cockayne syndrome, Aicardi-Gouteres syndrome, tuberous
sclerosis, mitochondrial myopathy, lipoid proteinosis).

It is important to emphasize that Fahr's syndrome is different from

Fahr's disease. The latter has as main characteristics, an age of
onset between 40 and 60 years with a genetic trait and no associated
condition [1]. The pathophysiology of intracerebral calcification in
Fahr's syndrome is the subject of many hypotheses. However, the
one that is unanimously is the parathyroid dysfunction or other
causes of calcium metabolism overall [11]. In the pathologic
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examination of Fahr’s syndrome, calcium deposits were present 4. Saleem S, Aslam HM, Anwar M, et al. Fahr's syndrome:
in extracellular or extravascular space, especially around the literature review of current evidence. Orphanet J Rare Dis.
capillaries. However, it is not clear whether abnormal calcium 2013; 8: 156.
deposition in the brain is caused by the local destruction of the 5. Fénelon G, Gray F, Paillard F, et al. A prospective study of
blood brain barrier or by calcium metabolic disorder of neurons patients with CT detected pallidal calcifications. J Neurol
[12]. Most often secondary to an underlying pathology, the Neurosurg Psychiatry. 1993; 56: 622-625.
management of Fahr’s syndrome is tailored to these underlying 6. Rharrabti S, Darouich I, Benbrahim M, et al. A
associated conditions. Symptomatic treatment is most helpful. confusional syndrome revealing a Fahr syndrome with
Symptomatic treatment can be pharmacological in nature [9]. hyperparathyroidism. Pan Afr Med J. 2013; 14: 123.
When it is diagnosed and correctly managed, the prognosis is most 7. Seidler GH: Psychiatric and psychological aspects of Fahr
often favorable. syndrome. Psychiatr Prax. 1985; 12: 203-205.
8. Cassiani-Miranda CA, Herazo-Bustos M, Cabrera-Gonzalez
Conclusion A, et al. Barrios-Ayola F: Psychosis associated with Fahr's
Fahr's syndrome is a rare condition with no specific clinical signs. syndrome: a case report. Rev Colomb Psiquiatr. 2015; 44:
It is important to have it in mind in front of any intracerebral 256-261.
calcification especially symmetrical. Although being an orphan 9. Ooi HW, Er C, Hussain I, et al. Bilateral Basal Ganglia
at the syndromic level, it is an affection that has a well-codified Calcification: Fahr's Disease. Cureus. 2019; 11: 4797.
management which is the underlying pathology and symptoms 10. Swami A, Kar G. Intracranial hemorrhage revealing
management. pseudohypoparathyroidism as a cause of fahr syndrome. Case
Rep Neurol Med. 2011; 407567.
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© 2019 Agba Léhleng, et al. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License

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